Autosomal recessive hereditary disorder	Congenital anomaly of retina	Developmental hereditary disorder	Digestive system hereditary disorder	Genetic intellectual disability	Hereditary disorder of the integument	Hereditary disorder of the visual system	Oral-facial-digital syndrome
\|	\|	\|	\|	\|	\|	\|	\|

Oro-facial digital syndrome type 9 (disorder)
	Oro-facial digital syndrome type 9
	Oral-facial-digital syndrome type 9 Orofaciodigital syndrome with retinal abnormality Orofaciodigital syndrome type 9
	Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).

Id	718680001
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Skin structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dysplasia
Finding site	Ectoderm structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Retinal structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Structure of internal part of mouth
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Digit structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Impaired
Interprets	Intellectual ability

Has interpretation	Impaired
Interprets	Adaptation behavior

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.0
Term	Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan

SNOMED CT to ICD-10 extended map

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified